PNDM is a genetically heterogeneous disorder due to mutations in 23 different genes described to date: KCNJ11, ABCC8, FOXP3, GCK, PDX1, pancreas-specific transcription factor 1A (PTF1A), EIF2AK3, SLC2A2, GATA6, GATA4, SLC19A2, WFS1, NEUROD1, NEUROG3, RFX6
, LRBA, NKX2-2, MNX1, IER3IP1, INS, S T A T 3 , GLIS3 and HNF1B (3,4,5,6,7,8,9).
Laakso et al., "Heterozygous RFX6
protein truncating variants are associated with MODY with reduced penetrance," Nature Communications, vol.
These included the following: insulin, glucagons, somatostatin, gult 2, glucokinase (GCK), RFX6, and neurod1.
On the other hand expression of insulin, RFX6, and Neurod1 was higher among BM-MSCs (Figure 5).
However, BM-MSCs expressed higher levels of insulin, RFX6, and Neurodl.
After differentiation, the expression of insulin, RFX6, and Neurodl was higher among BM-MSCs (P < 0.05).
Shalev, "Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6
mutations," American Journal of Medical Genetics A, vol.
Following this, a next-generation sequencing assay was performed to analyze the coding regions and conserved splice sites of the 22 neonatal diabetes genes: KCNJ11, ABCC8, INS, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, PDX1, PTF1A, NEUROD1, NEUROG3, NKX2-2, RFX6
, SLC2A2, SLC19A2, STAT3, WFS1, and ZFP57 (Agilent custom capture v5.1/Illumina HiSeq) at the Molecular Genetics Laboratory, University of Exeter Medical School, UK (9).
A novel genetic mutation in the RFX6 gene (regulatory factor X on chromosome 6) was detected in babies with neonatal diabetes.
We report a case with neonatal diabetes, pancreatic hypoplasia gall bladder agenesis, duodenal atresia, haemochromatosis, hypospadias and intrauterine growth restriction with some additional features along with a different mutation in the RFX6 gene which has not been reported before.
In 2010, Smith et al (7) detected a novel genetic mutation in the RFX6 gene (regulatory factor X on chromosome 6) in 6 babies, all of whom had neonatal diabetes.
Here, we report a case with neonatal diabetes, pancreatic hypoplasia, gall bladder agenesis, duodenal atresia, haemochromatosis, hypospadias, and intrauterine growth retardation (IUGR) with some additional features along with a different mutation in the RFX6 gene which has not been reported before.